Please use this identifier to cite or link to this item: https://doi.org/10.1172/jci.insight.92061
Title: Genomic profiling reveals mutational landscape in parathyroid carcinomas
Authors: Wang, C
Sun, J
Guillaume, B 
Ge, T
Hibar, D.P
Greenwood, C.M.T
Qiu, A 
The Alzheimer's Disease Neuroimaging Initiative
Pandya, C
Uzilov, A.V
Bellizzi, J
Lau, C.Y
Moe, A.S
Strahl, M
Hamou, W
Newman, L.C
Fink, M.Y
Antipin, Y
Yu, W 
Stevenson, M
Cavaco, B.M
Teh, B.T 
Thakker, R.V
Morreau, H
Schadt, E.E
Sebra, R
Li, S.D
Arnold, A
Chen, R
Issue Date: 2017
Citation: Wang, C, Sun, J, Guillaume, B, Ge, T, Hibar, D.P, Greenwood, C.M.T, Qiu, A, The Alzheimer's Disease Neuroimaging Initiative, Pandya, C, Uzilov, A.V, Bellizzi, J, Lau, C.Y, Moe, A.S, Strahl, M, Hamou, W, Newman, L.C, Fink, M.Y, Antipin, Y, Yu, W, Stevenson, M, Cavaco, B.M, Teh, B.T, Thakker, R.V, Morreau, H, Schadt, E.E, Sebra, R, Li, S.D, Arnold, A, Chen, R (2017). Genomic profiling reveals mutational landscape in parathyroid carcinomas. JCI insight 2 (6) : e92061. ScholarBank@NUS Repository. https://doi.org/10.1172/jci.insight.92061
Abstract: Parathyroid carcinoma (PC) is an extremely rare malignancy lacking effective therapeutic intervention. We generated and analyzed whole-exome sequencing data from 17 patients to identify somatic and germline genetic alterations. A panel of selected genes was sequenced in a 7-tumor expansion cohort. We show that 47% (8 of 17) of the tumors harbor somatic mutations in the CDC73 tumor suppressor, with germline inactivating variants in 4 of the 8 patients. The PI3K/AKT/mTOR pathway was altered in 21% of the 24 cases, revealing a major oncogenic pathway in PC. We observed CCND1 amplification in 29% of the 17 patients, and a previously unreported recurrent mutation in putative kinase ADCK1. We identified the first sporadic PCs with somatic mutations in the Wnt canonical pathway, complementing previously described epigenetic mechanisms mediating Wnt activation. This is the largest genomic sequencing study of PC, and represents major progress toward a full molecular characterization of this rare malignancy to inform improved and individualized treatments.
Source Title: JCI insight
URI: https://scholarbank.nus.edu.sg/handle/10635/176097
ISSN: 2379-3708
DOI: 10.1172/jci.insight.92061
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